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先天性鱼鳞病基因遗传学研究进展 被引量：9

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摘要 鱼鳞病是一种以皮肤干燥、脱屑为主的遗传性皮肤病,可伴有系统损害而出现相应的综合征,其发病机理为基因突变。随着研究的深入,部分鱼鳞病基因已经被确定,甚至被用于产前诊断,有些还在研究中。为更好的了解各种鱼鳞病致病基因的分布,提供有效的产前诊断和遗传学咨询,本文就已发现的各种鱼鳞病的致病基因做一综述。
作者 唐志平 赵恬 张芳 罗权 张锡宝
机构地区 广东医学院 广州市皮肤病防治所
出处 《皮肤性病诊疗学杂志》 2013年第6期447-451,共5页 Journal of Diagnosis and Therapy on Dermato-venereology
基金 国家自然科学基金资助项目(编号:81071286) 广东省自然科学基金(编号:S2011040005952) 广州市科技计划项目(编号:201300000188) 广州市卫生局重点项目(编号:201102A212016)
关键词 鱼鳞病 基因 遗传学
分类号 R758.52 [医药卫生—皮肤病学与性病学]
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参考文献33

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二级参考文献20

  • 1杨勇,马铁牛,杨海珍,卜定方,汪科,涂平,朱学骏.板层状鱼鳞病患者转谷氨酰胺酶1活性缺失及其基因突变[J].中华皮肤科杂志,2003,36(9):487-489. 被引量：9
  • 2魏生才,郑广勇,张锡宝,黄振明,邓俐,张堂德.板层状鱼鳞病TGM1基因突变研究[J].中华皮肤科杂志,2006,39(3):131-133. 被引量：8
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皮肤性病诊疗学杂志
2013年 第6期

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